AutismKB 2.0

Annotation Details for POT1


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Basic Information Top
Gene Symbol:POT1 ( DKFZp586D211,HPOT1 )
Gene Full Name: protection of telomeres 1 homolog (S. pombe)
Band: 7q31.33
Quick LinksEntrez ID:25913; OMIM: 606478; Uniprot ID:POTE1_HUMAN; ENSEMBL ID: ENSG00000128513; HGNC ID: 17284
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000781IDA-chromosome, telomeric region12768206
GO:0000783IDA-nuclear telomere cap complex16880378
GO:0000784IDA-nuclear chromosome, telomeric region19135898
GO:0005634IDA-nucleus-
GO:0005654TAS-nucleoplasm-
GO:0070187IDA-shelterin complex15383534
GO:0070187IMP-shelterin complex21852327
GO:0070187TAS-shelterin complex17237768
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding12768206
GO:0010521IDA-telomerase inhibitor activity15632080
GO:0017151IPI-DEAD/H-box RNA helicase binding16030011
GO:0042162IDA-telomeric DNA binding23685356
GO:0043047IDA-single-stranded telomeric DNA binding15632080
GO:0043047IMP-single-stranded telomeric DNA binding12768206
GO:0061821IDA-telomeric D-loop binding19734539
GO:0061849IDANOTtelomeric G-quadruplex DNA binding19734539
GO:0098505IDA-G-rich strand telomeric DNA binding17237768
GO:1905773IDA-8-hydroxy-2'-deoxyguanosine DNA binding19734539
GO:1990955IDA-G-rich single-stranded DNA binding19734539
GO ID Evidence Qualifier GO_term References
GO:0007004IDA-telomere maintenance via telomerase12768206
GO:0016233IGI-telomere capping17632522
GO:0016233IMP-telomere capping15657433
GO:0016233TAS-telomere capping17237768
GO:0032202IDA-telomere assembly16043710
GO:0032210IGI-regulation of telomere maintenance via telomerase26586433
GO:0032211IGI-negative regulation of telomere maintenance via telomerase15181449
GO:0032211TAS-negative regulation of telomere maintenance via telomerase17237768
GO:0032212IDA-positive regulation of telomere maintenance via telomerase17237768
GO:0032212IMP-positive regulation of telomere maintenance via telomerase12768206
GO:0032508IDA-DNA duplex unwinding16030011
GO:0051096IDA-positive regulation of helicase activity16030011
GO:0051973IDA-positive regulation of telomerase activity16043710
GO:0051973IMP-positive regulation of telomerase activity15181449
GO:0051974IDA-negative regulation of telomerase activity15632080
GO:0060383IDA-positive regulation of DNA strand elongation16043710
GO:0061820IGI-telomeric D-loop disassembly22039056
GO:0070200IMP-establishment of protein localization to telomere25589350
GO:1905774IDA-regulation of DNA helicase activity19734539
GO:1905776IDA-positive regulation of DNA helicase activity19734539
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
POT1TERF111287212768206 Affinity Capture-Western
POT1TERF111741712768206 Affinity Capture-Western
POT1WRN11332321098121 Phenotypic Enhancement
POT1WRN11741721098121 Phenotypic Enhancement
POT1TNKS11420712768206 Affinity Capture-Western
POT1TNKS11741712768206 Affinity Capture-Western
TINF2POT111766012768206 15181449 15231715 Affinity Capture-MS; Affinity Capture-Western
TINF2POT111741712768206 15181449 15231715 Affinity Capture-MS; Affinity Capture-Western
ACDPOT112237915181449 15231715 16189514 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
ACDPOT111741715181449 15231715 16189514 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2141503
  • Data Attributes: MGI curated and HomoloGene calculated
No data
No data

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018